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Ophthalmic Genetics Volume 42, 2021 - Issue 3
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Case Reports

Clinical diagnosis of presumed SOX2 gonadosomatic mosaicism

Malena Daich Varelaa Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health (NIH), Bethesda, Maryland, USAORCID Iconhttps://orcid.org/0000-0003-4960-4510View further author information
ORCID Icon,
Robert B. Hufnagela Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health (NIH), Bethesda, Maryland, USAView further author information
,
Bin Guana Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health (NIH), Bethesda, Maryland, USAView further author information
,
Delphine Blaina Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health (NIH), Bethesda, Maryland, USAView further author information
,
Julie C. Sappb Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, NIH, Bethesda, Maryland, USAView further author information
,
Andrea L. Gropmanc Division of Neurogenetics and Developmental Pediatrics, Children’s National Hospital, Washington, District of Columbia, USA;d Department of Neurology, George Washington University, Washington, District of Columbia, USAView further author information
,
Ramakrishna Alura Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health (NIH), Bethesda, Maryland, USAView further author information
,
Jennifer J. Johnstonb Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, NIH, Bethesda, Maryland, USAView further author information
,
Leslie G. Bieseckerb Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, NIH, Bethesda, Maryland, USAView further author information
&
Brian P. Brooksa Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health (NIH), Bethesda, Maryland, USACorrespondence[email protected]
ORCID Iconhttps://orcid.org/0000-0003-2320-2396View further author information
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Pages 320-325 | Received 13 Jun 2020, Accepted 30 Jan 2021, Published online: 15 Mar 2021

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